A microarray for exploring the medical exome

In the new white paper ‘Examining the medical exome’, Oxford Gene Technology (OGT) speaks to genetic scientists Dr Tracey Lewis (ARUP Laboratories) and Dr Emily Farrow (Children’s Mercy Hospital) about the advantages of the CytoSure Medical Research Exome Array — a customisable array that targets a variety of genetic disorders to complement next-generation sequencing (NGS) for clinical genetic research.

Genetic disorders are rarely caused by isolated mutations within single genes; copy number variations (CNVs) play a significant role in many disorders and cannot be reliably detected by NGS. Microarray technologies offer the opportunity to detect CNVs and analyse thousands of genes simultaneously.

OGT collaborated with Emory Genetics Laboratory to develop the CytoSure Medical Research Exome Array, which is claimed to combine the latest genomic content with high-resolution exon-level probe design. It includes up-to-date gene content and is research validated, maximising the likelihood of detecting causative variation.

The white paper follows Dr Lewis and Dr Farrow as they describe how they employ microarrays alongside NGS for the best complementary strategy in clinical genetic research. The researchers explain that the key to a high-resolution array is the number of probes in the specific region of interest, meaning that high-density coverage with a focus on exons is important.

The CytoSure array retains complete genomic backbone coverage while covering each exon of over 4600 medically relevant hand-curated genes, grouped into disease- and syndrome-specific panels. According to Dr Farrow, “The CytoSure Medical Research Exome Array provides us with the exon-level resolution needed to detect CNVs over the medical exome that are currently missed by NGS and traditional microarray designs, providing additional insights into the mutation spectrum of the sample.”

In addition, the ability to customise the array enables researchers to utilise the platform as a base for more specific studies. An explanation from Dr Lewis about how this has been implemented, as well as the benefits it brings to her research, is included in the white paper.